R96* (p.Arg96Ter) variant of LBR (Delta(14)-sterol reductase LBR)
R96* (p.Arg96Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R96* (p.Arg96Ter) variant details
- p.Arg96Ter
- cosmic curated COSV99687
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 36.00
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available